Spinal Muscular Atrophy Update in Best Practices

Mary Schroth, J. Deans, Kapil Arya, Diana Castro, Darryl C. De Vivo, Melissa Gibbons, Cristian Ionita, Nancy L. Kuntz, Arpita Lakhotia, Erin E. Neil Knierbein,

Neurology Clinical Practice · 2024 · 31 citations · 32 references

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Abstract

Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.

References

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